NM_004715.5(CTDP1):c.863+389C>T AND Charcot-Marie-Tooth disease

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000789083.1

Allele description [Variation Report for NM_004715.5(CTDP1):c.863+389C>T]

NM_004715.5(CTDP1):c.863+389C>T

Gene:
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q23
Genomic location:
Preferred name:
NM_004715.5(CTDP1):c.863+389C>T
HGVS:
  • NC_000018.10:g.79710825C>T
  • NG_007988.1:g.36025C>T
  • NM_001202504.1:c.506+389C>T
  • NM_001318511.2:c.863+389C>T
  • NM_004715.4(CTDP1):c.863+389C>T
  • NM_004715.4:c.863+389C>T
  • NM_004715.5:c.863+389C>TMANE SELECT
  • NM_048368.4:c.863+389C>T
  • LRG_236t1:c.863+389C>T
  • LRG_236:g.36025C>T
  • NC_000018.9:g.77470825C>T
  • NM_004715.3:c.863+389C>T
Nucleotide change:
IVS6, C-T, +389
Links:
OMIM: 604927.0001; dbSNP: rs113994102
NCBI 1000 Genomes Browser:
rs113994102
Molecular consequence:
  • NM_001202504.1:c.506+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318511.2:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004715.4:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004715.5:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_048368.4:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928432Inherited Neuropathy Consortiumno assertion criteria providedPathogenicgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA.

Pediatr Neurol. 2005 Oct;33(4):277-9.

PubMed [citation]
PMID:
16194727

Details of each submission

From Inherited Neuropathy Consortium, SCV000928432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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